Dr. Zeng Wang: Research breakthrough in Lou Gehrig's disease

Dr. Zeng Wang

Friday

Sep 30, 2011 at 12:01 AMSep 30, 2011 at 12:35 PM

A group of researchers at Northwestern University Feinberg School of Medicine in Chicago recently identified abnormalities in the ubiquilin 2 gene and protein in the motor neurons of the brain and spinal cord as important contributors to several forms of ALS.

Dr. Zeng Wang, provides the answers on what is Lou Gehrig's disease and the latest research in this Q-and-A.

Q. What is ALS?

A. Amyotrophic lateral sclerosis, or ALS, is a motor neuron disease caused by degeneration of the motor neurons located in the spinal cord, the brainstem and probably the cortical neurons of the brain. It is also referred to as Lou Gehrig's disease in the United States, named after the famous New York Yankees baseball player who was diagnosed with the disease in the late 1930s.

Q. How does ALS affect individuals?

A. Because of degeneration of the motor neurons, the disease is characterized by rapidly progressive muscle weakness and atrophy and results in slurred speech, difficulty swallowing and, eventually, respiratory compromise. About 50 percent of patients die within three years of the first symptoms.

ALS afflicts an estimated 30,000 Americans and 350,000 people around the world. The vast majority of ALS cases (90 to 95 percent) are considered sporadic. Five to 10 percent run in families, and many different gene mutations have been implicated.

Q. Is there any new research?

A. Scientists have long tried to identify the underlying disease process of ALS. A group of researchers at Northwestern University Feinberg School of Medicine in Chicago recently identified abnormalities in the ubiquilin 2 gene and protein in the motor neurons of the brain and spinal cord as important contributors to several forms of ALS.

The finding, published Aug. 21 in the journal Nature, provides evidence for an impairment of protein turnover in the disease mechanism of ALS and ALS/dementia, and possibly in other neurodegenerative disorders as well. However, a causative connection between ubiquilin 2 protein accumulations and ALS has not yet been proven.

Q. What does protein have to do with ALS?

A. The ubiquilin 2 protein plays a role in a cellular maintenance mechanism called the ubiquitin-proteasome pathway, which normally repairs or disposes misfolded or damaged proteins. The removal of damaged proteins is critical for normal cell functioning. When ubiquilin 2 is unable to remove or repair damaged proteins, the damaged proteins begin to pile up in the cells, eventually blocking normal transmission of the nerve signals in the spinal cord and brain or causing cell death (apoptosis).

Q. How does this research move studying ALS forward?

A. The discovery shows that different forms of ALS (sporadic, familiar and ALS with dementia) could share a common underlying cause and offers a common target for drug therapy.

These new findings should open an important new avenue in ALS research. Researchers may develop cells and animal models that have ubiquilin 2 mutations so that the ubiquilin 2 pathways in health and disease can be studied.

This finding may also prove useful in the study of other neurodegenerative diseases, specifically Alzheimer's and other dementias.

Q. Will this research lead to better drugs to treat ALS?

A. Currently, the FAD-approved drug Rilutek (Riluzole) has modest effects and may prolong patient's life for a few months only. The new discovery could provide novel molecular targets for the future design of specific drug therapies for ALS and other neurodegenerative diseases.

Q. Where to go for more information?

A. MDA's ALS Division: www.als-mda.org

ALS Association: www.alsa.org

Dr. Zeng Wang, Ph.D., is an assistant professor of neurology at Southern Illinois University School of Medicine and clinical co-director of the MDA/ALS clinics in Springfield, Ill.

-- Be Healthy Springfield, Ill.

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